TRIM63（MuRF1）中 p.Q274X 纯合无义突变导致的轻度骨骼肌病和心脏肥大患者。
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
机构信息
Department of Neurology, Neuromuscular Research Center, University Hospital and University of Tampere, Finland.
Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Turku, Finland.
出版信息
J Neuromuscul Dis. 2019;6(1):143-146. doi: 10.3233/JND-180350.
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested. Our case report confirms the role of TRIM63 as a new cardiac myopathy gene, although it is unclear whether the homozygous p.Q247X mutation alone is sufficient to cause an additional skeletal myopathy.
TRIM63 突变已被描述为迄今为止导致心脏和骨骼肌肉病变的一个潜在原因，但仅在一个家族中发现。我们描述了一位新患者携带相同的纯合 TRIM63 无义突变 c.739 C>T p.Q247X，该突变最初在一个西班牙家族的两名成员中被报道，表现为心脏肥大。其中一名原患者还存在 TRIM54 的另一个杂合突变，以及更严重的骨骼肌肉表型，因此提示双基因遗传。我们的病例报告证实了 TRIM63 作为一种新的心脏肌肉病变基因的作用，尽管尚不清楚纯合 p.Q247X 突变是否足以导致额外的骨骼肌肉病变。
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